Linked Data
ClinVar Variation Id:
899267
ClinVar RCV Id:
RCV001143668
dbSNP Id:
rs144012583
ExAC:
2:26705364 C / T
gnomAD v2:
2-26705364-C-T
gnomAD v3:
2-26482496-C-T
gnomAD v4:
2-26482496-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482496C>T , CM000664.2:g.26482496C>T | GRCh38 |
| NC_000002.11:g.26705364C>T , CM000664.1:g.26705364C>T | GRCh37 |
| NC_000002.10:g.26558868C>T | NCBI36 |
| NG_009937.1:g.81203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1489G>A MANE Select | ENSP00000272371.2:p.Val497Met | |
| ENST00000272371.6:c.1489G>A | ENSP00000272371.2:p.Val497Met | |
| ENST00000403946.7:c.1489G>A | ENSP00000385255.3:p.Val497Met | |
| NM_001287489.1:c.1489G>A | NP_001274418.1:p.Val497Met | |
| NM_194248.2:c.1489G>A | NP_919224.1:p.Val497Met | |
| XM_005264644.2:c.1534G>A | XP_005264701.1:p.Val512Met | |
| XM_011533185.1:c.1534G>A | XP_011531487.1:p.Val512Met | |
| XM_017005338.1:c.1489G>A | XP_016860827.1:p.Val497Met | |
| NM_001287489.2:c.1489G>A | NP_001274418.1:p.Val497Met | |
| NM_194248.3:c.1489G>A MANE Select | NP_919224.1:p.Val497Met |